Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The p...

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Detalhes bibliográficos
Publicado no:Case Rep Ophthalmol
Main Authors: Shimizu, Kayo, Oishi, Akio, Oishi, Maho, Ogino, Ken, Morooka, Satoshi, Sugahara, Masako, Gotoh, Norimoto, Yoshimura, Nagahisa
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2015
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Published online: July, 2015
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4553918/
https://ncbi.nlm.nih.gov/pubmed/26327910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000437348
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